Genetics of hypogonadotropic hypogonadism

Journal of Endocrinological Investigation

Volumn 23, Issue 9, 2000, Pages 560-565

  Seminara, S B ^a   Oliveira, L M B ^a   Beranova, M ^a   Hayes, F J ^a   Crowley W F , Jr ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

DAX1; GNRH; Hypogonadism; KAL

Indexed keywords

CORTICOTROPIN; FOLLITROPIN; FURIN; GONADORELIN; GONADORELIN RECEPTOR; GONADOTROPIN; GROWTH HORMONE; LEPTIN; LEPTIN RECEPTOR; LUTEINIZING HORMONE; PROLACTIN; SEX HORMONE; STEROIDOGENIC FACTOR 1; THYROTROPIN; TRANSCRIPTION FACTOR;

ADRENAL INSUFFICIENCY; AMENORRHEA; ANOSMIA; DELAYED PUBERTY; DISEASE ASSOCIATION; GENE EXPRESSION; GENE MUTATION; GENETIC HETEROGENEITY; HORMONE BLOOD LEVEL; HORMONE DEFICIENCY; HORMONE RELEASE; HORMONE SYNTHESIS; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; HYPOPHYSIS ADRENAL SYSTEM; HYPOPLASIA; INFERTILITY; INHERITANCE; KALLMANN SYNDROME; NONHUMAN; PRECOCIOUS PUBERTY; REVIEW; X CHROMOSOME LINKAGE;

EID: 0033755154     PISSN: 03914097     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF03343776     Document Type: Review

References (51)

1. Characterization of the physiologic pattern of episodic gonadotropin secretion throughout the human menstrual cycle
2. Hypogonadotropic disorders in men and women: Diagnosis and therapy with pulsatile gonadotropin-releasing hormone
3. The spectrum of abnormal patterns of gonadotropin-releasing hormone secretion in men with idiopathic hypogonadotropic hypogonadism: Clinical and laboratory correlations
4. Neuroendocrine-gonadal axis in men: Frequent sampling of LH, FSH, and testosterone
5. Induction of puberty in men by long-term pulsatile administration of low-dose gonadotropin-releasing hormone
6. A deletion truncating the gonadotropin-releasing hormone gene is responsible for hypogonadism in the hpg mouse
7. Normal sequence of the gonadotropin-releasing hormone gene in patients with idiopathic hypogonadotropic hypogonadism
8. Normal structure of the gonadotropin-releasing hormone (GnRH) gene in patients with GnRH deficiency and idiopathic hypogonadotropic hypogonadism
9. Evidence that cells expressing luteinizing hormone-releasing hormone mRNA in the mouse are derived from progenitor cells in the olfactory placode
10. Luteinizing hormone-releasing hormone (LHRH)-expressing cells do not migrate normally in an inherited hypogonadal (Kallmann) syndrome
11. A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules
12. The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules
13. Brief report: Intragenic deletion of the KALIG-1 gene in Kallmann's syndrome
14. X chromosome-linked Kallmann syndrome: Stop mutations validate the candidate gene
15. Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome
16. The neuroradiology of Kallmann's syndrome: A genotypic and phenotypic analysis
17. Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency
18. Expression pattern of the Kallmann syndrome gene in the olfactory system suggests a role in neuronal targeting
19. Expression of the KAL gene in multiple neuronal sites during chicken development
20. KAL, a gene mutated in Kallmann's syndrome, is expressed in the first trimester of human development
21. Expression of the Kallmann syndrome gene in human fetal brain and in the manipulated chick embryo
22. Anosmin-1 is a regionally restricted component of basement membranes and interstitial matrices during organogenesis: Implications for the developmental anomalies of X chromosome-linked Kallmann syndrome
23. The gene responsible for adrenal hypoplasia congenita, DAX-1, encodes a nuclear hormone receptor that defines a new class with the superfamily
24. An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita
25. DAX1 mutations map to putative structural domains in a deduced three-dimensional model
26. Expression of DAX-1, the gene responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism, in the hypothalamic-pituitary- adrenal/gonadal axis
27. Mouse Dax1 expression is consistent with a role in sex determination as well as in adrenal and hypothalamus function
28. Developmental expression of mouse steroidogenic factor-1, an essential regulator of the steroid hydroxylases
29. Nuclear receptor DAX-1 recruits nuclear receptor corepressor N-CoR to steroidogenic factor 1
30. Active hypothalamic-pituitary-gonadal axis in an infant with X-linked adrenal hypoplasia congenita
31. X-linked adrenal hypoplasia congenita: A mutation in DAX1 expands the phenotypic spectrum in males and females
32. Role of Ahch in gonadal development and gametogenesis
33. Hypogonadotropic hypogonadism in a female caused by an X-linked recessive mutation in the DAX1 gene
34. The genetic and clinical heterogeneity of gonadotropin-releasing hormone deficiency in the human
35. Clinical review 4: Diagnosis and treatment of isolated gonadotropin-releasing hormone deficiency in men
36. Gonadotropin-releasing hormone receptors: Structure and signal transduction pathways
37. A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor
38. Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism
39. Resistance of hypogonadic patients with mutated GnRH receptor genes to pulsatile GnRH administration
40. The same molecular defects of the gonadotropin-releasing hormone receptor determine a variable degree of hypogonadism in affected kindred
41. Successful use of pulsatile gonadotropin-releasing hormone (GnRH) for ovulation induction and pregnancy in a patient with GnRH receptor mutations
42. Impaired processing of prohormones associated with abnormalities of glucose homeostasis and adrenal function
43. Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene
44. Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg-Cys at codon 120 (R120C)
45. The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency
46. 'Hot spot' in the PROP1 gene responsible for combined pituitary hormone deficiency
47. Clinical and biochemical phenotype of familial anterior hypopituitarism from mutation of the PROP1 gene
48. Genetically transmitted obesity in rodents
49. Correction of the sterility defect in homozygous obese female mice by treatment with the human recombinant leptin
50. Congenital leptin deficiency is associated with severe early-onset obesity in humans
51. A leptin missense mutation associated with hypogonadism and morbid obesity